cystinosis

Summary
Synonym
  • cystine storage disease
Definition
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
Super Class
autosomal recessive disease lysosomal storage disease
External Links
Disease Ontology
DOID:1064
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
1497 CTNS cystinosin, lysosomal cystine transporter
1595 CYP51A1 cytochrome P450 family 51 subfamily A member 1
1962 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
2878 GPX3 glutathione peroxidase 3
3958 LGALS3 galectin 3
4669 NAGLU N-acetyl-alpha-glucosaminidase
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
6514 SLC2A2 solute carrier family 2 member 2
The Human Phenotype Ontology
Displaying entries 81 - 90 of 99 in total
HPO ID HPO Term
HP:0002857 Genu valgum
HP:0002909 Generalized aminoaciduria
HP:0002917 Hypomagnesemia
HP:0003016 Metaphyseal widening
HP:0003198 Myopathy
HP:0003202 Skeletal muscle atrophy
HP:0003234 Decreased circulating carnitine concentration
HP:0003251 Male infertility
HP:0003358 Elevated intracellular cystine
HP:0003593 Infantile onset
Displaying 1 entry
Gene ID Gene Symbol Description
1497 CTNS cystinosin, lysosomal cystine transporter

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024